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Article

[The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease].

Yi chuan = Hereditas - 1 Jul 2007

Song Shu-Juan, Song Shu-Juan, Yan Ming, Wang Xiao-Zhu, Zhang Yuan-Zhi, Zou Jun-Hua, Zhong Nanbert

Abstract excerpt

Mutation of GJB1 gene was investigated in two families with X-linked Charcot-Marie-Tooth disease. Genomic DNA from venous blood samples was prepared. The coding sequence of the GJB1 gene was amplified from genomic DNA. PCR products were analyzed by single strand conformational polymorphism (SSCP) method. The PCR product having an abnormal pattern was sequenced to detect the mutation. It was found that the samples...

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Source

Identifiers

PMID: 17646144
DOI: 10.1360/yc-007-0800

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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